HUE047193T2 - Módszer genetikai variáció kimutatására - Google Patents
Módszer genetikai variáció kimutatásáraInfo
- Publication number
- HUE047193T2 HUE047193T2 HUE11878559A HUE11878559A HUE047193T2 HU E047193 T2 HUE047193 T2 HU E047193T2 HU E11878559 A HUE11878559 A HU E11878559A HU E11878559 A HUE11878559 A HU E11878559A HU E047193 T2 HUE047193 T2 HU E047193T2
- Authority
- HU
- Hungary
- Prior art keywords
- genetic variation
- detecting genetic
- detecting
- variation
- genetic
- Prior art date
Links
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6869—Methods for sequencing
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
-
- G—PHYSICS
- G06—COMPUTING OR CALCULATING; COUNTING
- G06F—ELECTRIC DIGITAL DATA PROCESSING
- G06F17/00—Digital computing or data processing equipment or methods, specially adapted for specific functions
- G06F17/10—Complex mathematical operations
- G06F17/18—Complex mathematical operations for evaluating statistical data, e.g. average values, frequency distributions, probability functions, regression analysis
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/10—Sequence alignment; Homology search
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Engineering & Computer Science (AREA)
- Physics & Mathematics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Analytical Chemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Biophysics (AREA)
- General Health & Medical Sciences (AREA)
- Biotechnology (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Theoretical Computer Science (AREA)
- Evolutionary Biology (AREA)
- Bioinformatics & Computational Biology (AREA)
- General Engineering & Computer Science (AREA)
- Medical Informatics (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Microbiology (AREA)
- Molecular Biology (AREA)
- Genetics & Genomics (AREA)
- Biochemistry (AREA)
- Immunology (AREA)
- Data Mining & Analysis (AREA)
- General Physics & Mathematics (AREA)
- Pure & Applied Mathematics (AREA)
- Mathematical Optimization (AREA)
- Mathematical Analysis (AREA)
- Mathematical Physics (AREA)
- Computational Mathematics (AREA)
- Probability & Statistics with Applications (AREA)
- Operations Research (AREA)
- Software Systems (AREA)
- Algebra (AREA)
- Databases & Information Systems (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| PCT/CN2011/002244 WO2013097062A1 (zh) | 2011-12-31 | 2011-12-31 | 一种遗传变异检测方法 |
| EP11878559.1A EP2772549B8 (en) | 2011-12-31 | 2011-12-31 | Method for detecting genetic variation |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| HUE047193T2 true HUE047193T2 (hu) | 2020-04-28 |
Family
ID=48696161
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| HUE11878559A HUE047193T2 (hu) | 2011-12-31 | 2011-12-31 | Módszer genetikai variáció kimutatására |
Country Status (9)
| Country | Link |
|---|---|
| US (1) | US20140370504A1 (pl) |
| EP (1) | EP2772549B8 (pl) |
| JP (1) | JP5993029B2 (pl) |
| CN (1) | CN104204220B (pl) |
| DK (1) | DK2772549T3 (pl) |
| ES (1) | ES2741966T3 (pl) |
| HU (1) | HUE047193T2 (pl) |
| PL (1) | PL2772549T3 (pl) |
| WO (1) | WO2013097062A1 (pl) |
Families Citing this family (27)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2013107048A1 (zh) * | 2012-01-20 | 2013-07-25 | 深圳华大基因健康科技有限公司 | 确定样本基因组中是否存在拷贝数变异的方法、系统和计算机可读介质 |
| US20130309666A1 (en) | 2013-01-25 | 2013-11-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US20160154931A1 (en) | 2013-07-17 | 2016-06-02 | Bgi Genomics Co., Limited | Method and device for detecting chromosomal aneuploidy |
| CN105830077B (zh) | 2013-10-21 | 2019-07-09 | 维里纳塔健康公司 | 用于在确定拷贝数变异中改善检测的灵敏度的方法 |
| CN103993069B (zh) * | 2014-03-21 | 2020-04-28 | 深圳华大基因科技服务有限公司 | 病毒整合位点捕获测序分析方法 |
| BR112016027848A2 (pt) * | 2014-05-30 | 2017-08-22 | Verinata Health Inc | Método para avaliação de número de cópias de uma sequência de interesse, meio legível por máquina não transitória, e, sistema para avaliação de número de cópias de uma sequência de interesse |
| CN105734120B (zh) * | 2014-12-11 | 2020-11-27 | 天津华大基因科技有限公司 | 检测性发育相关基因变异的方法和试剂盒 |
| MA40939A (fr) | 2014-12-12 | 2017-10-18 | Verinata Health Inc | Utilisation de la taille de fragments d'adn acellulaire pour déterminer les variations du nombre de copies |
| CN105986008A (zh) * | 2015-01-27 | 2016-10-05 | 深圳华大基因科技有限公司 | Cnv检测方法和装置 |
| CN105354443A (zh) * | 2015-12-14 | 2016-02-24 | 孔祥军 | 无创产前基因检测分析软件 |
| US10095831B2 (en) | 2016-02-03 | 2018-10-09 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
| CN107480470B (zh) * | 2016-06-08 | 2020-08-11 | 广州华大基因医学检验所有限公司 | 基于贝叶斯与泊松分布检验的已知变异检出方法和装置 |
| CN106367512A (zh) * | 2016-09-22 | 2017-02-01 | 上海序康医疗科技有限公司 | 一种鉴定样本中肿瘤负荷的方法和系统 |
| US11342047B2 (en) | 2017-04-21 | 2022-05-24 | Illumina, Inc. | Using cell-free DNA fragment size to detect tumor-associated variant |
| WO2018214010A1 (zh) * | 2017-05-23 | 2018-11-29 | 深圳华大基因研究院 | 一种基于测序数据的变异检测方法、装置和存储介质 |
| CN109097457A (zh) * | 2017-06-20 | 2018-12-28 | 深圳华大智造科技有限公司 | 确定核酸样本中预定位点突变类型的方法 |
| CN107312850A (zh) * | 2017-07-19 | 2017-11-03 | 华东医药(杭州)基因科技有限公司 | 一种pcr无效扩增的检测方法 |
| CN112365927B (zh) * | 2017-12-28 | 2023-08-25 | 安诺优达基因科技(北京)有限公司 | Cnv检测装置 |
| CN108410970A (zh) * | 2018-03-12 | 2018-08-17 | 博奥生物集团有限公司 | 一种单细胞基因组拷贝数变异的检测方法及试剂盒 |
| CN109086571B (zh) * | 2018-08-03 | 2019-08-23 | 国家卫生健康委科学技术研究所 | 一种单基因病遗传变异智能解读及报告的方法和系统 |
| CN109920485B (zh) * | 2018-12-29 | 2023-10-31 | 浙江安诺优达生物科技有限公司 | 对测序序列进行变异模拟的方法及其应用 |
| CN111139303B (zh) * | 2020-01-03 | 2022-07-05 | 西北农林科技大学 | 一种山羊cadm2基因cnv标记辅助检测生长性状的方法及其应用 |
| CN113436683B (zh) * | 2020-03-23 | 2024-08-16 | 北京合生基因科技有限公司 | 筛选候选插入片段的方法和系统 |
| CN111429966A (zh) * | 2020-04-23 | 2020-07-17 | 长沙金域医学检验实验室有限公司 | 基于稳健线性回归的染色体拷贝数变异判别方法及装置 |
| CN113299342B (zh) * | 2021-06-17 | 2024-03-15 | 苏州贝康医疗器械有限公司 | 基于芯片数据的拷贝数变异检测方法及检测装置 |
| JP7745090B2 (ja) * | 2021-08-30 | 2025-09-26 | 広州燃石医学検験所有限公司 | コピー数変異の検出方法およびその応用 |
| WO2025208288A1 (zh) * | 2024-04-01 | 2025-10-09 | 深圳华大生命科学研究院 | 基因预测方法、装置、计算机设备及计算机可读存储介质 |
Family Cites Families (6)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| EP2313520B1 (en) * | 2008-07-04 | 2014-08-27 | Decode Genetics EHF | Copy number variations predictive of risk of schizophrenia |
| CN101555528B (zh) * | 2008-09-28 | 2015-05-27 | 南京市妇幼保健院 | 一种染色体22q11.2区微缺失、微重复的测定方法 |
| WO2010042716A1 (en) * | 2008-10-08 | 2010-04-15 | The Children's Hospital Of Philadelphia | Genetic alterations associated with type i diabetes and methods of use thereof for diagnosis and treatment |
| US8954337B2 (en) * | 2008-11-10 | 2015-02-10 | Signature Genomic | Interactive genome browser |
| WO2010057132A1 (en) * | 2008-11-14 | 2010-05-20 | The Children's Hospital Of Philadelphia | Genetic alterations associated with schizophrenia and methods of use thereof for the diagnosis and treatment of the same |
| US9051602B2 (en) * | 2008-12-22 | 2015-06-09 | Celula, Inc. | Methods and genotyping panels for detecting alleles, genomes, and transcriptomes |
-
2011
- 2011-12-31 EP EP11878559.1A patent/EP2772549B8/en active Active
- 2011-12-31 ES ES11878559T patent/ES2741966T3/es active Active
- 2011-12-31 HU HUE11878559A patent/HUE047193T2/hu unknown
- 2011-12-31 CN CN201180076137.XA patent/CN104204220B/zh active Active
- 2011-12-31 DK DK11878559.1T patent/DK2772549T3/da active
- 2011-12-31 PL PL11878559T patent/PL2772549T3/pl unknown
- 2011-12-31 US US14/369,615 patent/US20140370504A1/en not_active Abandoned
- 2011-12-31 WO PCT/CN2011/002244 patent/WO2013097062A1/zh not_active Ceased
- 2011-12-31 JP JP2014546264A patent/JP5993029B2/ja active Active
Also Published As
| Publication number | Publication date |
|---|---|
| JP5993029B2 (ja) | 2016-09-14 |
| CN104204220A (zh) | 2014-12-10 |
| DK2772549T3 (da) | 2019-08-19 |
| EP2772549A4 (en) | 2015-03-18 |
| US20140370504A1 (en) | 2014-12-18 |
| ES2741966T3 (es) | 2020-02-12 |
| EP2772549B1 (en) | 2019-07-31 |
| EP2772549A1 (en) | 2014-09-03 |
| CN104204220B (zh) | 2017-06-06 |
| WO2013097062A1 (zh) | 2013-07-04 |
| JP2015502749A (ja) | 2015-01-29 |
| PL2772549T3 (pl) | 2019-12-31 |
| EP2772549B8 (en) | 2019-09-11 |
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